Varaico: Literature-Extracted Genetic Variants

Gene:UCP3
Variant:p.R70W
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UCP3

NM_003356.4:p.R70W

Associated Papers

Genetic etiology and clinical features of non-syndromic pediatric obesity in the Chinese population: a large cohort study.

Hui H et al.

Bmc Pediatrics, 2025

Identification and Characteristics of Novel Mutations in Nonsyndromic Monogenic Obesity.

Shi P et al.

Advanced Biology, 2023

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.

Tang CSM et al.

Jci Insight, 2022

34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable8._Rec_PseudoCtCADD20

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants

Four novel UCP3 gene variants associated with childhood obesity: effect on fatty acid oxidation and on prevention of triglyceride storage.

Musa CV et al.

International Journal of Obesity (2005), 2012

Genetic Variance in Uncoupling Protein 2 in Relation to Obesity, Type 2 Diabetes, and Related Metabolic Traits: Focus on the Functional -866G>A Promoter Variant (rs659366).

Dalgaard LT

Journal of Obesity, 2011

Uncoupling protein 3 genetic variants in human obesity: the c-55t promoter polymorphism is negatively correlated with body mass index in a UK Caucasian population.

Halsall DJ et al.

International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity, 2001

Endogenous mutations in human uncoupling protein 3 alter its functional properties.

Brown AM et al.

Febs Letters, 1999

The human mitochondrial transport/carrier protein family. Nonsynonymous single nucleotide polymorphisms (nsSNPs) and mutations that lead to human diseases.

Wohlrab H

Biochimica Et Biophysica Acta, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."